#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
SLCO1B3	28234	broad.mit.edu	37	12	21069042	21069043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:21069042_21069043insG	ENST00000381545.3	+	16	2189_2190	c.1970_1971insG	c.(1969-1974)aaggcafs	p.A658fs	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Ins_p.A658fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	658					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AAAGATACCAAGGCATCGGACA	0.317																																						ENST00000381545.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1969-1974)aaggcafs		solute carrier organic anion transporter family, member 1B3																																				SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21069042_21069043insG		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1972dupG	12.37:g.21069044_21069044dupG	ENSP00000370956:p.Ala658fs	False	False		Somatic	2				SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Ins_p.A658fs|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron	p.A658fs	NM_019844.3	NP_062818.1	WXS	Illumina HiSeq	Phase_I	Q9NPD5	SO1B3_HUMAN			16	2189_2190	+	Esophageal squamous(101;0.149)		658					E7EMT8|Q5JAR4	Frame_Shift_Ins	INS	ENST00000381545.3	37	c.1970_1971insG	CCDS8684.1																																																																																				0.317	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	0	NM_019844		12:21069042
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
TP53	7157	broad.mit.edu	37	17	7579533	7579533	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:7579533delG	ENST00000269305.4	-	4	343	c.154delC	c.(154-156)caafs	p.Q52fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.Q52fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.Q52fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	52	Interaction with HRMT1L2.		Q -> H (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGAACCATTGTTCAATATCG	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		29	Substitution - Nonsense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - insertion inframe(1)	p.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(6)|prostate(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|stomach(2)|central_nervous_system(2)|large_intestine(1)|kidney(1)|endometrium(1)|breast(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(154-156)caafs	Other conserved DNA damage response genes	tumor protein p53							168.0	167.0	167.0					17																	7579533		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579533delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.154delC	17.37:g.7579533delG	ENSP00000269305:p.Gln52fs	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	1				TP53_ENST00000445888.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q52fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.Q52fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.Q52fs	p.Q52fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	286	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	52		Q -> H (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.154delC	CCDS11118.1																																																																																				0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7579533
MED1	5469	broad.mit.edu	37	17	37580067	37580068	+	Frame_Shift_Ins	INS	-	-	TCTAGTACTTGTT			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:37580067_37580068insTCTAGTACTTGTT	ENST00000394287.3	-	12	1063_1064	c.858_859insAACAAGTACTAGA	c.(856-861)ccttccfs	p.S287fs	MED1_ENST00000300651.6_Frame_Shift_Ins_p.S287fs			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAGGAGAAGGAAGGGGTCCTTC	0.401										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000394287.3		NA																	0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(856-861)ccttccfs		mediator complex subunit 1																																				SO:0001589	frameshift_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37580067_37580068insTCTAGTACTTGTT	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.858_859insAACAAGTACTAGA	17.37:g.37580067_37580068insTCTAGTACTTGTT	ENSP00000377828:p.Ser287fs	True	False	HNSCC(31;0.082)	Somatic	0				MED1_ENST00000300651.6_Frame_Shift_Ins_p.S287fs	p.S287fs			WXS	Illumina HiSeq	Phase_I	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	12	1063_1064	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	287			Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Ins	INS	ENST00000394287.3	37	c.858_859insAACAAGTACTAGA																																																																																					0.401	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	0	NM_004774		17:37580067
ERCC3	2071	broad.mit.edu	37	2	128046235	128046235	+	Splice_Site	DEL	C	C	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:128046235delC	ENST00000285398.2	-	7	1122		c.e7+1		ERCC3_ENST00000493187.2_Splice_Site	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3						7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTACCACTTACCGCAGGGAAG	0.532			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285398.2		NA	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.e7+1	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							357.0	353.0	354.0					2																	128046235		2203	4300	6503	SO:0001630	splice_region_variant	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046235delC	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1027+1G>-	2.37:g.128046235delC		False	False		Somatic	2				ERCC3_ENST00000493187.2_Splice_Site		NM_000122.1	NP_000113.1	WXS	Illumina HiSeq	Phase_I	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	7	1122	-	Colorectal(110;0.1)		NA					Q53QM0	Splice_Site	DEL	ENST00000285398.2	37		CCDS2144.1																																																																																				0.532	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	0	NM_000122	Intron	2:128046235
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483																																						ENST00000409547.1		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2938-2940)caadel		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233708804_233708806delCAA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2938_2940delCAA	2.37:g.233708804_233708806delCAA	ENSP00000386537:p.Gln984del	True	False		Somatic	1				GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del	p.Q984del	NM_015575.3	NP_056390.2	WXS	Illumina HiSeq	Phase_I	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	26	3249_3251	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	984			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2938_2940delCAA	CCDS33401.1																																																																																				0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	0	NM_001103146		2:233708804
MTBP	27085	broad.mit.edu	37	8	121500556	121500557	+	Frame_Shift_Ins	INS	-	-	ATTATCTT			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:121500556_121500557insATTATCTT	ENST00000305949.1	+	12	1368_1369	c.1323_1324insATTATCTT	c.(1324-1326)gaafs	p.E442fs		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	442					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACAAAGACAGAAGAAGCCAA	0.351																																						ENST00000305949.1		NA																	0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1324-1326)gaafs		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa																																				SO:0001589	frameshift_variant	27085				cell cycle arrest			g.chr8:121500556_121500557insATTATCTT		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	Exception_encountered	8.37:g.121500556_121500557insATTATCTT	ENSP00000303398:p.Glu442fs	False	False		Somatic	0					p.E442fs	NM_022045.3	NP_071328.2	WXS	Illumina HiSeq	Phase_I	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		12	1368_1369	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		442					B4DUR5|Q9HA89	Frame_Shift_Ins	INS	ENST00000305949.1	37	c.1323_1324insATTATCTT	CCDS6333.1																																																																																				0.351	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	0	NM_022045		8:121500556
MTBP	27085	broad.mit.edu	37	8	121500557	121500558	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:121500557_121500558insTT	ENST00000305949.1	+	12	1369_1370	c.1324_1325insTT	c.(1324-1326)gaafs	p.E442fs		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	442					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AACAAAGACAGAAGAAGCCAAA	0.351																																						ENST00000305949.1		NA																	0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1324-1326)gaafs		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa																																				SO:0001589	frameshift_variant	27085				cell cycle arrest			g.chr8:121500557_121500558insTT		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	Exception_encountered	8.37:g.121500557_121500558insTT	ENSP00000303398:p.Glu442fs	False	False		Somatic	0					p.E442fs	NM_022045.3	NP_071328.2	WXS	Illumina HiSeq	Phase_I	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		12	1369_1370	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		442					B4DUR5|Q9HA89	Frame_Shift_Ins	INS	ENST00000305949.1	37	c.1324_1325insTT	CCDS6333.1																																																																																				0.351	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	0	NM_022045		8:121500557
TGM1	7051	broad.mit.edu	37	14	24724342	24724342	+	Missense_Mutation	SNP	G	G	A	rs143322085		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:24724342G>A	ENST00000206765.6	-	12	1886	c.1763C>T	c.(1762-1764)gCg>gTg	p.A588V	TGM1_ENST00000544573.1_Missense_Mutation_p.A146V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	588					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCCATCACCGCGTCCTGTGC	0.577																																						ENST00000206765.6		NA																	0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(1762-1764)gCg>gTg		transglutaminase 1	L-Glutamine(DB00130)	G	VAL/ALA	0,4406		0,0,2203	94.0	77.0	83.0		1763	4.3	0.7	14	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	no	missense	TGM1	NM_000359.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	588/818	24724342	2,13004	2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24724342G>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1763C>T	14.37:g.24724342G>A	ENSP00000206765:p.Ala588Val	False	False		Somatic	0				TGM1_ENST00000544573.1_Missense_Mutation_p.A146V	p.A588V	NM_000359.2	NP_000350.1	WXS	Illumina HiSeq	Phase_I	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	12	1886	-			588					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.1763C>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253753	0.22965	0.0	2.33E-4	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.70399	-0.48;-0.48	5.18	4.28	0.50868	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.572364	0.18241	N	0.147251	T	0.60196	0.2250	L	0.43152	1.355	0.37256	D	0.906752	B	0.11235	0.004	B	0.10450	0.005	T	0.59059	-0.7525	10	0.32370	T	0.25	-16.2109	8.7813	0.34794	0.0819:0.1506:0.7675:0.0	.	588	P22735	TGM1_HUMAN	V	588;146	ENSP00000206765:A588V;ENSP00000439446:A146V	ENSP00000206765:A588V	A	-	2	0	TGM1	23794182	0.226000	0.23696	0.657000	0.29651	0.111000	0.19643	2.213000	0.42844	1.402000	0.46780	0.655000	0.94253	GCG		0.577	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	0	NM_000359		14:24724342
PTPRS	5802	broad.mit.edu	37	19	5210482	5210482	+	Missense_Mutation	SNP	G	G	A	rs147647579		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:5210482G>A	ENST00000587303.1	-	34	5584	c.5485C>T	c.(5485-5487)Cgg>Tgg	p.R1829W	PTPRS_ENST00000262963.6_Missense_Mutation_p.R1809W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1791W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1382W|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1791W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1382W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1829W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000372412.4_Missense_Mutation_p.R1830W			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1829	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TCACTCACCCGGGCATCTGTG	0.562																																						ENST00000372412.4		NA																	0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5488-5490)Cgg>Tgg		protein tyrosine phosphatase, receptor type, S		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	112.0	104.0	107.0		5485,4144,5371,4156	-0.2	1.0	19	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1829/1949,1382/1502,1791/1911,1386/1506	5210482	1,13005	2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5210482G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5485C>T	19.37:g.5210482G>A	ENSP00000467537:p.Arg1829Trp	True	False		Somatic	0				PTPRS_ENST00000348075.2_Missense_Mutation_p.R1791W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1829W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1809W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1791W|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1829W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1382W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1382W	p.R1830W			WXS	Illumina HiSeq	Phase_I	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	35	5721	-			1829			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5488C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	15.03	2.713599	0.48517	0.0	1.16E-4	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	2.31	-0.225	0.13111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.084158	0.45361	U	0.000376	T	0.37679	0.1012	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.995;1.0;1.0;0.999;0.999	P;P;D;P;D;D	0.91635	0.889;0.634;0.999;0.865;0.912;0.958	T	0.25745	-1.0123	10	0.87932	D	0	.	9.6749	0.40034	0.0:0.0:0.2921:0.7079	.	1411;1382;1386;1791;1829;1424	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	W	1424;1830;1829;1829;1820;1809;1791;1411;1386;1382	ENSP00000361489:R1830W;ENSP00000349932:R1829W;ENSP00000262963:R1809W;ENSP00000269907:R1791W;ENSP00000327313:R1382W	ENSP00000262963:R1809W	R	-	1	2	PTPRS	5161482	1.000000	0.71417	0.995000	0.50966	0.718000	0.41266	1.922000	0.40045	-0.096000	0.12329	0.486000	0.48141	CGG		0.562	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	0			19:5210482
OSBP2	23762	broad.mit.edu	37	22	31285529	31285529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:31285529G>A	ENST00000332585.6	+	7	1633	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	OSBP2_ENST00000437268.2_Missense_Mutation_p.R252Q|OSBP2_ENST00000407373.1_Missense_Mutation_p.R337Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.R344Q|OSBP2_ENST00000446658.2_Missense_Mutation_p.R509Q|OSBP2_ENST00000535268.1_Missense_Mutation_p.R54Q|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000401475.1_Missense_Mutation_p.R143Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	510					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTCAAGAGGCGAGTCCGCATT	0.597																																						ENST00000332585.6		NA																	0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1528-1530)cGa>cAa		oxysterol binding protein 2							128.0	142.0	137.0					22																	31285529		2117	4243	6360	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31285529G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1529G>A	22.37:g.31285529G>A	ENSP00000332576:p.Arg510Gln	False	False		Somatic	0				OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000535268.1_Missense_Mutation_p.R54Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.R344Q|OSBP2_ENST00000446658.2_Missense_Mutation_p.R509Q|OSBP2_ENST00000401475.1_Missense_Mutation_p.R143Q|OSBP2_ENST00000407373.1_Missense_Mutation_p.R337Q|OSBP2_ENST00000437268.2_Missense_Mutation_p.R252Q	p.R510Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	WXS	Illumina HiSeq	Phase_I	Q969R2	OSBP2_HUMAN			7	1633	+			510					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.1529G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.421409|4.421409	0.83559|0.83559	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000454145;ENST00000453621;ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000424224;ENST00000437268;ENST00000535268;ENST00000452656	.|T;T;T;T;T;T;T	.|0.57273	.|0.46;0.46;0.98;1.0;0.52;0.44;0.41	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.061482	.|0.64402	.|D	.|0.000003	T|T	0.62938|0.62938	0.2469|0.2469	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;0.995;0.995	.|D;D;D;D;P;P	.|0.73708	.|0.979;0.981;0.954;0.981;0.691;0.691	T|T	0.66500|0.66500	-0.5908|-0.5908	5|10	.|0.72032	.|D	.|0.01	-20.1482|-20.1482	18.165|18.165	0.89722|0.89722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|252;344;252;337;509;510	.|F5H2A3;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;OSBP2_HUMAN	K|Q	172;181;182|344;337;510;509;143;144;252;54;141	.|ENSP00000384213:R344Q;ENSP00000385237:R337Q;ENSP00000332576:R510Q;ENSP00000392080:R509Q;ENSP00000385254:R143Q;ENSP00000389200:R252Q;ENSP00000438713:R54Q	.|ENSP00000332576:R510Q	E|R	+|+	1|2	0|0	OSBP2|OSBP2	29615529|29615529	1.000000|1.000000	0.71417|0.71417	0.472000|0.472000	0.27241|0.27241	0.008000|0.008000	0.06430|0.06430	9.601000|9.601000	0.98297|0.98297	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.597	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	0	NM_030758		22:31285529
CACNA1A	773	broad.mit.edu	37	19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000574822.1_5'Flank|CACNA1A_ENST00000573710.2_Intron	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1846					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAAGGCATGCGGCCCCTGGC	0.493																																						ENST00000360228.5		NA																	0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5533-5535)cGc>cAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						48.0	49.0	49.0					19																	13338336		1877	4112	5989	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13338336C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5534G>A	19.37:g.13338336C>T	ENSP00000353362:p.Arg1845His	False	False		Somatic	0				CACNA1A_ENST00000573710.2_Intron	p.R1845H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	WXS	Illumina HiSeq	Phase_I	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		37	5533	-			1846					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5534G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.580140	0.86645	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.96459	-4.02	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	D	0.98264	0.9425	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.99581	1.0973	10	0.87932	D	0	.	16.0868	0.81060	0.0:1.0:0.0:0.0	.	1845	Q9NS88	.	H	1845;1851;1846	ENSP00000353362:R1845H	ENSP00000349520:R1846H	R	-	2	0	CACNA1A	13199336	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.079000	0.62486	0.298000	0.19748	CGC		0.493	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	0	NM_000068		19:13338336
MIR518F	574472	broad.mit.edu	37	19	54201696	54201696	+	RNA	SNP	C	C	T	rs375309078		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:54201696C>T	ENST00000384973.1	+	0	0				MIR520B_ENST00000384989.1_RNA|MIR525_ENST00000384978.1_RNA|MIR523_ENST00000385281.1_RNA	NR_030194.1				microRNA 518f																		GAAAAGAACGCGCTTCCCTAT	0.443																																						ENST00000385281.1		NA																	0					NA										C		1,3135		0,1,1567	65.0	63.0	64.0			0.2	0.0	19		64	1,7163		0,1,3581	no	intergenic				0,2,5148	TT,TC,CC		0.014,0.0319,0.0194			54201696	2,10298	1568	3582	5150			0							g.chr19:54201696C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54201696C>T		False	False		Somatic	0						NR_030193.1		WXS	Illumina HiSeq	Phase_I					0	58	+			NA						RNA	SNP	ENST00000384973.1	37																																																																																						0.443	MIR518F-201	KNOWN	basic	miRNA	miRNA		0	NR_030194		19:54201696
OR6B1	135946	broad.mit.edu	37	7	143701160	143701160	+	Missense_Mutation	SNP	G	G	A	rs375787820		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:143701160G>A	ENST00000408922.2	+	1	139	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTGAGTATGCGGGCAGCCATG	0.502																																						ENST00000408922.2		NA																	0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(70-72)cGg>cAg		olfactory receptor, family 6, subfamily B, member 1		G	GLN/ARG	1,3975		0,1,1987	113.0	106.0	108.0		71	1.5	0.1	7		108	0,8356		0,0,4178	no	missense	OR6B1	NM_001005281.1	43	0,1,6165	AA,AG,GG		0.0,0.0252,0.0081	benign	24/312	143701160	1,12331	1988	4178	6166	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701160G>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.71G>A	7.37:g.143701160G>A	ENSP00000386151:p.Arg24Gln	True	False		Somatic	0					p.R24Q	NM_001005281.1	NP_001005281.1	WXS	Illumina HiSeq	Phase_I	O95007	OR6B1_HUMAN			1	139	+	Melanoma(164;0.0783)		24					A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.71G>A	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.774575	0.00640	2.52E-4	0.0	ENSG00000221813	ENST00000408922	T	0.00211	8.54	5.37	1.53	0.23141	.	0.295013	0.17555	U	0.170002	T	0.00039	0.0001	N	0.01015	-1.05	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	10	0.02654	T	1	.	7.8985	0.29721	0.4139:0.0:0.5861:0.0	.	24	O95007	OR6B1_HUMAN	Q	24	ENSP00000386151:R24Q	ENSP00000386151:R24Q	R	+	2	0	OR6B1	143332093	0.146000	0.22672	0.124000	0.21820	0.227000	0.25037	2.922000	0.48860	0.404000	0.25506	-0.252000	0.11476	CGG		0.502	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1	0			7:143701160
PCDHAC2	56134	broad.mit.edu	37	5	140347636	140347636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140347636C>T	ENST00000289269.5	+	1	1817	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACTGGACCGAGAGCGGGT	0.572																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5		NA																	0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1285-1287)Cga>Tga									87.0	90.0	89.0					5																	140347636		2203	4300	6503	SO:0001587	stop_gained	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347636C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1285C>T	5.37:g.140347636C>T	ENSP00000289269:p.Arg429*	False	False		Somatic	0				PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R429*	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	WXS	Illumina HiSeq	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1817	+			429			Cadherin 4.		Q2M3V1|Q9Y5F4	Nonsense_Mutation	SNP	ENST00000289269.5	37	c.1285C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	41	8.700697	0.98920	.	.	ENSG00000243232	ENST00000289269	.	.	.	5.79	2.46	0.29980	.	0.000000	0.40064	N	0.001194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4557	0.84012	0.3826:0.6174:0.0:0.0	.	.	.	.	X	429	.	ENSP00000289269:R429X	R	+	1	2	PCDHAC2	140327820	0.745000	0.28261	1.000000	0.80357	0.903000	0.53119	0.052000	0.14163	0.670000	0.31165	0.563000	0.77884	CGA		0.572	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	0	NM_018899		5:140347636
UGT2B17	7367	broad.mit.edu	37	4	69403349	69403349	+	Silent	SNP	C	C	T	rs377546716		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr4:69403349C>T	ENST00000317746.2	-	6	1629	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	529					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.R529R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ATAACTAATCCCTTTTCTTCT	0.408																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2		NA																	2	Substitution - coding silent(2)	p.R529R(2)	lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1585-1587)agG>agA		UDP glucuronosyltransferase 2 family, polypeptide B17							82.0	79.0	80.0					4																	69403349		2114	4002	6116	SO:0001819	synonymous_variant	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69403349C>T	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1587G>A	4.37:g.69403349C>T		True	False		Somatic	0					p.R529R	NM_001077.3	NP_001068.1	WXS	Illumina HiSeq	Phase_I	O75795	UDB17_HUMAN			6	1629	-			529						Silent	SNP	ENST00000317746.2	37	c.1587G>A	CCDS3523.1																																																																																				0.408	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	0	NM_001077		4:69403349
COBL	23242	broad.mit.edu	37	7	51096317	51096317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:51096317G>A	ENST00000265136.7	-	10	2641	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W	COBL_ENST00000395542.2_Missense_Mutation_p.R908W	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	826					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGGGGGTTCCGGCCCTCATGG	0.622																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2		NA																	0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2722-2724)Cgg>Tgg		cordon-bleu WH2 repeat protein							55.0	57.0	56.0					7																	51096317		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096317G>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2476C>T	7.37:g.51096317G>A	ENSP00000265136:p.Arg826Trp	False	False		Somatic	0				COBL_ENST00000265136.7_Missense_Mutation_p.R826W	p.R908W			WXS	Illumina HiSeq	Phase_I	O75128	COBL_HUMAN			12	2906	-	Glioma(55;0.08)		826					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2722C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521241	0.44866	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.12774	2.66;2.66;2.65;2.65	5.2	2.41	0.29592	.	0.935820	0.08832	N	0.887110	T	0.16428	0.0395	N	0.22421	0.69	0.09310	N	1	D;D;D;D;P	0.69078	0.997;0.997;0.996;0.979;0.924	P;P;P;B;B	0.55923	0.787;0.787;0.617;0.409;0.409	T	0.21655	-1.0239	10	0.66056	D	0.02	.	5.3882	0.16229	0.0:0.6034:0.1544:0.2423	.	826;883;826;908;368	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	W	826;718;711;908	ENSP00000265136:R826W;ENSP00000401204:R718W;ENSP00000413498:R711W;ENSP00000378912:R908W	ENSP00000265136:R826W	R	-	1	2	COBL	51063811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.260000	0.18424	0.205000	0.20568	-0.344000	0.07964	CGG		0.622	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	0	NM_015198		7:51096317
CRLF2	64109	broad.mit.edu	37	X	1325350	1325350	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:1325350C>T	ENST00000381567.3	-	3	324	c.325G>A	c.(325-327)Gca>Aca	p.A109T	CRLF2_ENST00000381566.1_Missense_Mutation_p.A109T|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	109					immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAGCGACTTGCGGTGAAAACG	0.493			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																	ENST00000381567.3		NA		Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	"""Mis, T"""	cytokine receptor-like factor 2			L	"""P2RY8, IGH@"""		"""B-ALL, Downs associated ALL"""		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20						c.(325-327)Gca>Aca		cytokine receptor-like factor 2							217.0	209.0	212.0					X																	1325350		1958	4128	6086	SO:0001583	missense	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1325350C>T	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.325G>A	X.37:g.1325350C>T	ENSP00000370979:p.Ala109Thr	False	False		Somatic	0				CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.A109T	p.A109T	NM_022148.2	NP_071431.2	WXS	Illumina HiSeq	Phase_I	Q9HC73	CRLF2_HUMAN			3	324	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	109					Q9H5R3	Missense_Mutation	SNP	ENST00000381567.3	37	c.325G>A		.	.	.	.	.	.	.	.	.	.	.	4.127	0.021722	0.08006	.	.	ENSG00000205755	ENST00000381567;ENST00000400841;ENST00000381566	D;D;D	0.98400	-4.91;-4.91;-3.86	0.914	-0.981	0.10269	Fibronectin, type III (1);	1.183800	0.06595	U	0.752833	D	0.93815	0.8022	.	.	.	0.09310	N	1	P	0.46706	0.883	B	0.34418	0.182	D	0.89163	0.3531	9	0.45353	T	0.12	.	3.2605	0.06846	0.0:0.4718:0.0:0.5282	.	109	Q9HC73	CRLF2_HUMAN	T	109	ENSP00000370979:A109T;ENSP00000383641:A109T;ENSP00000370978:A109T	ENSP00000370978:A109T	A	-	1	0	CRLF2	1285350	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.346000	0.07760	-0.329000	0.08527	0.395000	0.25975	GCA		0.493	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_022148		X:1325350
EPG5	57724	broad.mit.edu	37	18	43496007	43496007	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr18:43496007G>A	ENST00000282041.5	-	19	3583	c.3549C>T	c.(3547-3549)gaC>gaT	p.D1183D	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1183					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTGTATGCAGTCTTCCTGCA	0.393																																						ENST00000282041.5		NA																	0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(3547-3549)gaC>gaT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							57.0	54.0	55.0					18																	43496007		1905	4118	6023	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43496007G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3549C>T	18.37:g.43496007G>A		False	False		Somatic	0				EPG5_ENST00000585906.1_5'UTR	p.D1183D	NM_020964.2	NP_066015.2	WXS	Illumina HiSeq	Phase_I	Q9HCE0	EPG5_HUMAN			19	3583	-			1183					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.3549C>T	CCDS11926.2																																																																																				0.393	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	0	NM_020964		18:43496007
KRTAP4-7	100132476	broad.mit.edu	37	17	39240781	39240781	+	Missense_Mutation	SNP	C	C	A	rs372960430|rs553572799	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:39240781C>A	ENST00000391417.4	+	1	323	c.323C>A	c.(322-324)aCc>aAc	p.T108N		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	133	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						tgccagcccacctgctgccgc	0.662																																						ENST00000391417.4		NA																	0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(322-324)aCc>aAc		keratin associated protein 4-7							13.0	15.0	14.0					17																	39240781		1874	3648	5522	SO:0001583	missense	100132476							g.chr17:39240781C>A	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.323C>A	17.37:g.39240781C>A	ENSP00000375236:p.Thr108Asn	False	False		Somatic	0					p.T108N	NM_033061.3	NP_149050.3	WXS	Illumina HiSeq	Phase_I					1	323	+			NA					A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.323C>A	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	7.648	0.682264	0.14907	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00609	6.24	3.41	1.04	0.20106	.	1.411810	0.05113	U	0.489187	T	0.00580	0.0019	.	.	.	0.21697	N	0.999583	B	0.20550	0.046	B	0.20384	0.029	T	0.45234	-0.9275	9	0.42905	T	0.14	.	7.6942	0.28585	0.1798:0.6442:0.176:0.0	.	108	Q9BYR0	KRA47_HUMAN	N	108;99	ENSP00000375236:T108N	ENSP00000375236:T108N	T	+	2	0	KRTAP4-9;KRTAP4-7	36494307	0.000000	0.05858	0.287000	0.24848	0.438000	0.31896	-2.909000	0.00699	0.494000	0.27859	0.455000	0.32223	ACC		0.662	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1	0			17:39240781
SEC16A	9919	broad.mit.edu	37	9	139370989	139370989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:139370989G>A	ENST00000371706.3	-	1	578	c.545C>T	c.(544-546)gCc>gTc	p.A182V	SEC16A_ENST00000313050.7_Missense_Mutation_p.A360V|SEC16A_ENST00000431893.2_Missense_Mutation_p.A182V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A182V			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	182					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTCTAGCGGGGCACAGCCAGA	0.607																																						ENST00000313050.7		NA																	0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1078-1080)gCc>gTc		SEC16 homolog A (S. cerevisiae)							16.0	17.0	17.0					9																	139370989		1849	4098	5947	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139370989G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.545C>T	9.37:g.139370989G>A	ENSP00000360771:p.Ala182Val	True	False		Somatic	0				SEC16A_ENST00000431893.2_Missense_Mutation_p.A182V|SEC16A_ENST00000371706.3_Missense_Mutation_p.A182V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A182V	p.A360V	NM_014866.1	NP_055681.1	WXS	Illumina HiSeq	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	1152	-		Myeloproliferative disorder(178;0.0511)	182					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.1079C>T		.	.	.	.	.	.	.	.	.	.	G	11.22	1.574576	0.28092	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.24350	1.89;1.86;1.86;1.87	4.78	-1.84	0.07809	.	1.706090	0.03038	N	0.153015	T	0.08846	0.0219	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.08055	0.001;0.003;0.003	T	0.21999	-1.0229	10	0.23302	T	0.38	.	5.9374	0.19173	0.5872:0.1539:0.2589:0.0	.	360;182;182	F1T0I1;O15027-5;O15027-4	.;.;.	V	360;182;182;182	ENSP00000325827:A360V;ENSP00000360771:A182V;ENSP00000290037:A182V;ENSP00000387583:A182V	ENSP00000290037:A182V	A	-	2	0	SEC16A	138490810	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	1.309000	0.33539	-0.036000	0.13669	-0.812000	0.03155	GCC		0.607	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	0	XM_088459		9:139370989
TSPAN8	7103	broad.mit.edu	37	12	71519132	71519132	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:71519132G>A	ENST00000393330.2	-	12	1248	c.696C>T	c.(694-696)tgC>tgT	p.C232C	TSPAN8_ENST00000247829.3_Silent_p.C232C|TSPAN8_ENST00000546561.1_Silent_p.C232C|TSPAN8_ENST00000552128.1_Silent_p.C149C			P19075	TSN8_HUMAN	tetraspanin 8	232					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCCCGATCTGGCAATACAGGA	0.353																																						ENST00000393330.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(694-696)tgC>tgT		tetraspanin 8							128.0	119.0	122.0					12																	71519132		2203	4300	6503	SO:0001819	synonymous_variant	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71519132G>A	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.696C>T	12.37:g.71519132G>A		False	False		Somatic	0				TSPAN8_ENST00000546561.1_Silent_p.C232C|TSPAN8_ENST00000552128.1_Silent_p.C149C|TSPAN8_ENST00000247829.3_Silent_p.C232C	p.C232C			WXS	Illumina HiSeq	Phase_I	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		12	1248	-			232					B2R7T7|Q9BS78	Silent	SNP	ENST00000393330.2	37	c.696C>T	CCDS8999.1																																																																																				0.353	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	0	NM_004616		12:71519132
PIK3CA	5290	broad.mit.edu	37	3	178951974	178951974	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:178951974T>C	ENST00000263967.3	+	21	3186	c.3029T>C	c.(3028-3030)aTg>aCg	p.M1010T	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1010	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GGCTCTGGAATGCCAGAACTA	0.383		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3028-3030)aTg>aCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							112.0	100.0	104.0					3																	178951974		1881	4111	5992	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178951974T>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3029T>C	3.37:g.178951974T>C	ENSP00000263967:p.Met1010Thr	False	False	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic	0					p.M1010T	NM_006218.2	NP_006209.2	WXS	Illumina HiSeq	Phase_I	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3186	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1010			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3029T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485678	0.44147	.	.	ENSG00000121879	ENST00000263967	T	0.81247	-1.47	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	L	0.50333	1.59	0.80722	D	1	P	0.41784	0.762	B	0.39935	0.314	T	0.81230	-0.1027	10	0.87932	D	0	-19.3218	16.635	0.85050	0.0:0.0:0.0:1.0	.	1010	P42336	PK3CA_HUMAN	T	1010	ENSP00000263967:M1010T	ENSP00000263967:M1010T	M	+	2	0	PIK3CA	180434668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.510000	0.81708	2.330000	0.79161	0.477000	0.44152	ATG		0.383	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2	0			3:178951974
GRM4	2914	broad.mit.edu	37	6	34003844	34003844	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:34003844G>A	ENST00000538487.2	-	9	2486	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Silent_p.F565F|GRM4_ENST00000609222.1_Silent_p.F548F|GRM4_ENST00000544773.2_Silent_p.F512F|GRM4_ENST00000455714.2_Silent_p.F541F|GRM4_ENST00000535756.1_Silent_p.F548F|GRM4_ENST00000374181.4_Silent_p.F681F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	681					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCCCTGCTCGAAGATGCGGT	0.617																																						ENST00000538487.2		NA																	0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2041-2043)ttC>ttT		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						135.0	139.0	137.0					6																	34003844		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003844G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2043C>T	6.37:g.34003844G>A		False	False		Somatic	0				GRM4_ENST00000374177.3_Silent_p.F565F|GRM4_ENST00000609222.1_Silent_p.F548F|GRM4_ENST00000544773.2_Silent_p.F512F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Silent_p.F548F|GRM4_ENST00000455714.2_Silent_p.F541F|GRM4_ENST00000374181.4_Silent_p.F681F	p.F681F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	WXS	Illumina HiSeq	Phase_I	Q14833	GRM4_HUMAN			9	2486	-			NA					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.2043C>T	CCDS4787.1																																																																																				0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2	0			6:34003844
TNFRSF10A	8797	broad.mit.edu	37	8	23054711	23054711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:23054711C>T	ENST00000221132.3	-	9	1085	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	341					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCAGCTTCTGCCGGTCCCTGT	0.557																																						ENST00000221132.3		NA																	0				NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(1021-1023)Gca>Aca		tumor necrosis factor receptor superfamily, member 10a							139.0	120.0	126.0					8																	23054711		2203	4300	6503	SO:0001583	missense	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23054711C>T	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1021G>A	8.37:g.23054711C>T	ENSP00000221132:p.Ala341Thr	False	False		Somatic	0					p.A341T	NM_003844.3	NP_003835.3	WXS	Illumina HiSeq	Phase_I	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	9	1085	-		Prostate(55;0.0421)|Breast(100;0.14)	341					A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	c.1021G>A	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263348	0.39995	.	.	ENSG00000104689	ENST00000221132	D	0.85013	-1.93	2.81	0.762	0.18454	.	7.483190	0.00772	U	0.001204	D	0.90356	0.6982	M	0.67397	2.05	0.09310	N	1	D	0.89917	1.0	D	0.69307	0.963	T	0.70132	-0.4956	10	0.72032	D	0.01	.	4.3919	0.11344	0.0:0.5647:0.2773:0.158	.	341	O00220	TR10A_HUMAN	T	341	ENSP00000221132:A341T	ENSP00000221132:A341T	A	-	1	0	TNFRSF10A	23110656	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.658000	0.05329	0.023000	0.15187	0.491000	0.48974	GCA		0.557	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	0	NM_003844		8:23054711
AKAP9	10142	broad.mit.edu	37	7	91714155	91714155	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:91714155G>A	ENST00000359028.2	+	35	8970	c.8745G>A	c.(8743-8745)caG>caA	p.Q2915Q	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Silent_p.Q2911Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2915					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTGGGGTCAGGGAATTTATC	0.348			T	BRAF	papillary thyroid																																	ENST00000359028.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8743-8745)caG>caA		A kinase (PRKA) anchor protein 9							107.0	111.0	110.0					7																	91714155		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91714155G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8745G>A	7.37:g.91714155G>A		True	False		Somatic	0				AKAP9_ENST00000356239.3_Silent_p.Q2911Q|AKAP9_ENST00000358100.2_Intron	p.Q2915Q			WXS	Illumina HiSeq	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		35	8970	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2915					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.8745G>A		.	.	.	.	.	.	.	.	.	.	G	8.390	0.839502	0.16891	.	.	ENSG00000127914	ENST00000435423	.	.	.	4.77	0.0786	0.14413	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25047	-1.0143	4	.	.	.	.	0.8096	0.01091	0.436:0.1721:0.2181:0.1738	.	.	.	.	K	56	.	.	R	+	2	0	AKAP9	91552091	0.986000	0.35501	0.999000	0.59377	0.989000	0.77384	0.048000	0.14078	0.155000	0.19261	0.561000	0.74099	AGG		0.348	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		0	NM_005751		7:91714155
MAVS	57506	broad.mit.edu	37	20	3844906	3844906	+	Missense_Mutation	SNP	C	C	T	rs372329473		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:3844906C>T	ENST00000428216.2	+	6	757	c.629C>T	c.(628-630)gCg>gTg	p.A210V	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.A69V	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	210					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCGGCAGGTGCGACCTCCAGC	0.617																																						ENST00000428216.2		NA																	0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(628-630)gCg>gTg		mitochondrial antiviral signaling protein		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	88.0	91.0	90.0		629,206	-2.5	0.0	20		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MAVS	NM_020746.4,NM_001206491.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	210/541,69/400	3844906	1,13005	2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3844906C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.629C>T	20.37:g.3844906C>T	ENSP00000401980:p.Ala210Val	False	False		Somatic	0				MAVS_ENST00000416600.2_Missense_Mutation_p.A69V|MAVS_ENST00000358134.6_3'UTR	p.A210V	NM_020746.4	NP_065797.2	WXS	Illumina HiSeq	Phase_I	Q7Z434	MAVS_HUMAN			6	757	+			210					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.629C>T	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	4.610	0.113443	0.08831	0.0	1.16E-4	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.28666	1.6;2.65	3.84	-2.51	0.06365	.	3.330980	0.00987	N	0.003467	T	0.11024	0.0269	N	0.05078	-0.115	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15809	-1.0424	10	0.05351	T	0.99	4.4599	0.9205	0.01314	0.1672:0.3485:0.1665:0.3178	.	210	Q7Z434	MAVS_HUMAN	V	69;210	ENSP00000413749:A69V;ENSP00000401980:A210V	ENSP00000413749:A69V	A	+	2	0	MAVS	3792906	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.043000	0.03535	-0.435000	0.07264	0.650000	0.86243	GCG		0.617	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	0	NM_020746		20:3844906
PLCB4	5332	broad.mit.edu	37	20	9317832	9317832	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:9317832G>A	ENST00000378493.1	+	2	159	c.144G>A	c.(142-144)ctG>ctA	p.L48L	PLCB4_ENST00000414679.2_Silent_p.L48L|PLCB4_ENST00000378501.2_Silent_p.L48L|PLCB4_ENST00000378473.3_Silent_p.L48L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.L48L|PLCB4_ENST00000334005.3_Silent_p.L48L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	48					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCTTCTTTCTGACATGGAGAA	0.418																																						ENST00000378501.2		NA																	0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(142-144)ctG>ctA		phospholipase C, beta 4							130.0	116.0	121.0					20																	9317832		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9317832G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.144G>A	20.37:g.9317832G>A		True	False		Somatic	0				PLCB4_ENST00000378493.1_Silent_p.L48L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.L48L|PLCB4_ENST00000334005.3_Silent_p.L48L|PLCB4_ENST00000414679.2_Silent_p.L48L|PLCB4_ENST00000378473.3_Silent_p.L48L	p.L48L	NM_000933.3	NP_000924.3	WXS	Illumina HiSeq	Phase_I	Q15147	PLCB4_HUMAN			2	159	+			48					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.144G>A	CCDS13105.1																																																																																				0.418	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2	0			20:9317832
CRY2	1408	broad.mit.edu	37	11	45891310	45891310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:45891310C>T	ENST00000443527.2	+	7	1221	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V	CRY2_ENST00000417225.2_Missense_Mutation_p.A318V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	379	Required for inhibition of CLOCK-ARNTL- mediated transcription. {ECO:0000250}.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.A379V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCCCGGCATGCCGTGGCCTGC	0.642																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2		NA																	1	Substitution - Missense(1)	p.A379V(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(1198-1200)gCc>gTc		cryptochrome 2 (photolyase-like)							41.0	45.0	43.0					11																	45891310		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45891310C>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1199C>T	11.37:g.45891310C>T	ENSP00000406751:p.Ala400Val	False	False		Somatic	0				CRY2_ENST00000417225.2_Missense_Mutation_p.A318V	p.A400V	NM_021117.3	NP_066940.2	WXS	Illumina HiSeq	Phase_I	Q49AN0	CRY2_HUMAN			7	1221	+			379			FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1199C>T	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	35	5.453480	0.96223	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.99	5.99	0.97316	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	L	0.33668	1.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74023	0.949;0.97;0.982	T	0.59500	-0.7443	9	0.22706	T	0.39	-11.3444	20.4777	0.99188	0.0:1.0:0.0:0.0	.	379;400;318	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	V	318;400	.	ENSP00000397419:A318V	A	+	2	0	CRY2	45847886	1.000000	0.71417	0.956000	0.39512	0.880000	0.50808	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	GCC		0.642	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	0	NM_021117		11:45891310
BCOR	54880	broad.mit.edu	37	X	39934135	39934135	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:39934135A>G	ENST00000378444.4	-	4	692	c.464T>C	c.(463-465)aTa>aCa	p.I155T	BCOR_ENST00000397354.3_Missense_Mutation_p.I155T|BCOR_ENST00000342274.4_Missense_Mutation_p.I155T|BCOR_ENST00000378455.4_Missense_Mutation_p.I155T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	155					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACTTTTTTGTATTCCAGGCGG	0.517			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4		NA		Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(463-465)aTa>aCa		BCL6 corepressor							58.0	58.0	58.0					X																	39934135		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934135A>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.464T>C	X.37:g.39934135A>G	ENSP00000367705:p.Ile155Thr	False	False		Somatic	0				BCOR_ENST00000378455.4_Missense_Mutation_p.I155T|BCOR_ENST00000378444.4_Missense_Mutation_p.I155T|BCOR_ENST00000397354.3_Missense_Mutation_p.I155T	p.I155T	NM_001123383.1	NP_001116855.1	WXS	Illumina HiSeq	Phase_I	Q6W2J9	BCOR_HUMAN			4	826	-			155					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.464T>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242244	0.58995	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.47	5.47	0.80525	.	.	.	.	.	T	0.75671	0.3881	L	0.27053	0.805	0.45930	D	0.998761	D;D;D;D	0.71674	0.998;0.998;0.997;0.998	D;D;D;D	0.81914	0.995;0.995;0.989;0.995	T	0.79222	-0.1892	9	0.87932	D	0	-16.4292	14.5759	0.68246	1.0:0.0:0.0:0.0	.	155;155;155;155	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	155	ENSP00000367716:I155T;ENSP00000380512:I155T;ENSP00000367705:I155T;ENSP00000345923:I155T;ENSP00000384485:I155T	ENSP00000345923:I155T	I	-	2	0	BCOR	39819079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.931000	0.70113	1.822000	0.53115	0.486000	0.48141	ATA		0.517	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	0	NM_017745		X:39934135
MICAL2	9645	broad.mit.edu	37	11	12231128	12231128	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:12231128G>A	ENST00000256194.4	+	6	962	c.674G>A	c.(673-675)cGc>cAc	p.R225H	MICAL2_ENST00000527546.1_Missense_Mutation_p.R225H|MICAL2_ENST00000342902.5_Missense_Mutation_p.R225H|MICAL2_ENST00000379612.3_Missense_Mutation_p.R225H|MICAL2_ENST00000537344.1_Missense_Mutation_p.R225H	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	225	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCCGATGGCCGCAGGAACACC	0.527																																						ENST00000256194.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(673-675)cGc>cAc		microtubule associated monooxygenase, calponin and LIM domain containing 2							129.0	118.0	122.0					11																	12231128		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12231128G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.674G>A	11.37:g.12231128G>A	ENSP00000256194:p.Arg225His	False	False		Somatic	0				MICAL2_ENST00000379612.3_Missense_Mutation_p.R225H|MICAL2_ENST00000342902.5_Missense_Mutation_p.R225H|MICAL2_ENST00000537344.1_Missense_Mutation_p.R225H|MICAL2_ENST00000527546.1_Missense_Mutation_p.R225H	p.R225H	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	WXS	Illumina HiSeq	Phase_I	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	6	962	+			225					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.674G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054766	0.55325	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	5.3	4.38	0.52667	Aromatic-ring hydroxylase-like (1);	0.135126	0.47093	N	0.000256	T	0.11410	0.0278	M	0.65975	2.015	0.42116	D	0.991403	B;B;B;B;B	0.29115	0.233;0.12;0.037;0.076;0.039	B;B;B;B;B	0.23716	0.048;0.022;0.021;0.016;0.014	T	0.03212	-1.1060	10	0.48119	T	0.1	.	12.8422	0.57809	0.0803:0.0:0.9197:0.0	.	225;225;225;225;225	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	H	225	ENSP00000441689:R225H;ENSP00000256194:R225H;ENSP00000433965:R225H;ENSP00000344894:R225H;ENSP00000368932:R225H	ENSP00000256194:R225H	R	+	2	0	MICAL2	12187704	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.573000	0.74009	1.438000	0.47492	0.557000	0.71058	CGC		0.527	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	0	NM_014632		11:12231128
WTAP	9589	broad.mit.edu	37	6	160174502	160174502	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:160174502A>G	ENST00000358372.4	+	7	2220	c.463A>G	c.(463-465)Aaa>Gaa	p.K155E	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	155					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CCAAACAGGGAAAAAGTTAAT	0.428																																						ENST00000358372.4		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(463-465)Aaa>Gaa		Wilms tumor 1 associated protein							117.0	111.0	113.0					6																	160174502		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160174502A>G	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.463A>G	6.37:g.160174502A>G	ENSP00000351141:p.Lys155Glu	True	False		Somatic	0				SOD2_ENST00000546087.1_Intron	p.K155E	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	WXS	Illumina HiSeq	Phase_I	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	7	2220	+		Breast(66;0.000776)|Ovarian(120;0.0303)	155					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.463A>G	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	A	35	5.470230	0.96274	.	.	ENSG00000146457	ENST00000358372	T	0.51574	0.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.987	T	0.71272	-0.4642	10	0.51188	T	0.08	-4.8657	16.8222	0.85835	1.0:0.0:0.0:0.0	.	155;155	A8K489;Q15007	.;FL2D_HUMAN	E	155	ENSP00000351141:K155E	ENSP00000351141:K155E	K	+	1	0	WTAP	160094492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.313000	0.96297	2.371000	0.80710	0.533000	0.62120	AAA		0.428	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	0	NM_152857		6:160174502
TTC31	64427	broad.mit.edu	37	2	74717251	74717251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:74717251C>T	ENST00000233623.5	+	3	236	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000463189.1_Intron|TTC31_ENST00000410003.1_Missense_Mutation_p.H77Y	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	77										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCTGTGGCACCATGGTGGGGA	0.632																																						ENST00000410003.1		NA																	0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(229-231)Cat>Tat		tetratricopeptide repeat domain 31							20.0	23.0	22.0					2																	74717251		2041	4205	6246	SO:0001583	missense	64427						binding	g.chr2:74717251C>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.229C>T	2.37:g.74717251C>T	ENSP00000233623:p.His77Tyr	False	False		Somatic	0				TTC31_ENST00000442235.2_Intron|TTC31_ENST00000463189.1_Intron|TTC31_ENST00000233623.5_Missense_Mutation_p.H77Y	p.H77Y			WXS	Illumina HiSeq	Phase_I	Q49AM3	TTC31_HUMAN			3	238	+			77					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.229C>T	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100195	0.37048	.	.	ENSG00000115282	ENST00000410003;ENST00000435361;ENST00000441635;ENST00000233623	T;T	0.53206	0.63;0.63	3.9	3.01	0.34805	.	0.446946	0.17844	N	0.160114	T	0.38427	0.1040	L	0.51422	1.61	0.80722	D	1	B	0.14438	0.01	B	0.09377	0.004	T	0.46190	-0.9209	10	0.87932	D	0	.	6.6934	0.23185	0.0:0.8719:0.0:0.1281	.	77	Q49AM3	TTC31_HUMAN	Y	77	ENSP00000387213:H77Y;ENSP00000233623:H77Y	ENSP00000233623:H77Y	H	+	1	0	TTC31	74570759	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.973000	0.29422	2.177000	0.69029	0.561000	0.74099	CAT		0.632	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	0	NM_022492		2:74717251
ATXN2L	11273	broad.mit.edu	37	16	28846701	28846701	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:28846701C>T	ENST00000336783.4	+	20	2833	c.2666C>T	c.(2665-2667)gCg>gTg	p.A889V	ATXN2L_ENST00000395547.2_Missense_Mutation_p.A889V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A889V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A889V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.A895V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A889V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A889V	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	889					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCCAGCATGCGGCCCCCAGT	0.632																																						ENST00000336783.4		NA																	0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2665-2667)gCg>gTg		ataxin 2-like							45.0	44.0	44.0					16																	28846701		2197	4299	6496	SO:0001583	missense	11273					membrane		g.chr16:28846701C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2666C>T	16.37:g.28846701C>T	ENSP00000338718:p.Ala889Val	False	False		Somatic	0				ATXN2L_ENST00000340394.8_Missense_Mutation_p.A889V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A889V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A889V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.A889V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.A895V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A889V	p.A889V	NM_007245.3	NP_009176.2	WXS	Illumina HiSeq	Phase_I	Q8WWM7	ATX2L_HUMAN			20	2833	+			889					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.2666C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	11.14	1.552144	0.27739	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.50548	0.74;0.76;0.74;0.74;0.75	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000006	T	0.55862	0.1947	N	0.24115	0.695	0.51012	D	0.999907	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.78314	0.991;0.98;0.98;0.991;0.991;0.98;0.991	T	0.57596	-0.7784	10	0.48119	T	0.1	-10.6994	17.2962	0.87171	0.0:1.0:0.0:0.0	.	889;889;889;889;889;889;889	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	V	889	ENSP00000341459:A889V;ENSP00000378917:A889V;ENSP00000338718:A889V;ENSP00000372133:A889V;ENSP00000315650:A889V	ENSP00000315650:A889V	A	+	2	0	ATXN2L	28754202	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.609000	0.61148	2.613000	0.88420	0.563000	0.77884	GCG		0.632	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	0	NM_007245		16:28846701
VAV1	7409	broad.mit.edu	37	19	6857088	6857088	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:6857088C>T	ENST00000602142.1	+	27	2590	c.2508C>T	c.(2506-2508)taC>taT	p.Y836Y	VAV1_ENST00000596764.1_Silent_p.Y804Y|VAV1_ENST00000539284.1_Silent_p.Y739Y|VAV1_ENST00000304076.2_Silent_p.Y814Y|VAV1_ENST00000599806.1_Silent_p.Y781Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	836	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTGCCAACTACGTGGAGGAAG	0.592																																						ENST00000304076.2		NA																	0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2440-2442)taC>taT		vav 1 guanine nucleotide exchange factor							197.0	141.0	160.0					19																	6857088		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6857088C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2508C>T	19.37:g.6857088C>T		False	False		Somatic	0				VAV1_ENST00000599806.1_Silent_p.Y781Y|VAV1_ENST00000602142.1_Silent_p.Y836Y|VAV1_ENST00000539284.1_Silent_p.Y739Y|VAV1_ENST00000596764.1_Silent_p.Y804Y	p.Y814Y	NM_001258206.1	NP_001245135.1	WXS	Illumina HiSeq	Phase_I	P15498	VAV_HUMAN			26	2536	+			836			SH3 2.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.2442C>T	CCDS12174.1																																																																																				0.592	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1	0			19:6857088
C19orf45	374877	broad.mit.edu	37	19	7570440	7570440	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:7570440G>A	ENST00000361664.2	+	6	1074	c.933G>A	c.(931-933)tcG>tcA	p.S311S	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	311										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CTCCGGAGTCGCACATCCTGA	0.622																																						ENST00000361664.2		NA																	0				endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						c.(931-933)tcG>tcA		chromosome 19 open reading frame 45							48.0	53.0	51.0					19																	7570440		2203	4300	6503	SO:0001819	synonymous_variant	374877							g.chr19:7570440G>A	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.933G>A	19.37:g.7570440G>A		False	False		Somatic	0					p.S311S	NM_198534.2	NP_940936.2	WXS	Illumina HiSeq	Phase_I	Q8NA69	CS045_HUMAN			6	1074	+			311					Q8N115	Silent	SNP	ENST00000361664.2	37	c.933G>A	CCDS12179.2																																																																																				0.622	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	0	NM_198534		19:7570440
OSBPL3	26031	broad.mit.edu	37	7	24874215	24874215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:24874215G>A	ENST00000313367.2	-	15	2087	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	OSBPL3_ENST00000352860.1_Missense_Mutation_p.P515S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P479S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P479S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P515S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	546					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AGCTCCACCGGCATGGCCACC	0.632																																						ENST00000313367.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1636-1638)Ccg>Tcg		oxysterol binding protein-like 3							90.0	75.0	80.0					7																	24874215		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24874215G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1636C>T	7.37:g.24874215G>A	ENSP00000315410:p.Pro546Ser	False	False		Somatic	0				OSBPL3_ENST00000396429.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P479S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P515S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P479S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P515S	p.P546S	NM_015550.2	NP_056365.1	WXS	Illumina HiSeq	Phase_I	Q9H4L5	OSBL3_HUMAN			15	2087	-			546					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1636C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311061	0.95629	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.95382	0.8474	10	0.87932	D	0	-19.2119	20.1699	0.98157	0.0:0.0:1.0:0.0	.	479;510;479;515;510;546	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	S	546;515;510;479;515;510;479	ENSP00000315410:P546S;ENSP00000315331:P515S;ENSP00000315277:P510S;ENSP00000389779:P479S;ENSP00000379708:P515S;ENSP00000379706:P510S;ENSP00000386953:P479S	ENSP00000315410:P546S	P	-	1	0	OSBPL3	24840740	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.799000	0.99117	2.775000	0.95449	0.467000	0.42956	CCG		0.632	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2	0			7:24874215
CYB561D1	284613	broad.mit.edu	37	1	110038541	110038541	+	Missense_Mutation	SNP	G	G	A	rs377408419		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:110038541G>A	ENST00000420578.2	+	3	390	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000369868.3_Missense_Mutation_p.R139H|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000528785.1_Missense_Mutation_p.R117H|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000393709.3_Missense_Mutation_p.R60H|CYB561D1_ENST00000533024.1_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	117	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCAGGACCCGCAGTGAGCTG	0.637																																						ENST00000420578.2		NA																	0				breast(1)|large_intestine(3)|prostate(1)	5						c.(349-351)cGc>cAc		cytochrome b561 family, member D1		G	HIS/ARG,HIS/ARG,,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	73.0	72.0	72.0		416,179,,,350	5.3	1.0	1		72	0,8600		0,0,4300	no	missense,missense,utr-3,utr-3,missense	CYB561D1	NM_001134400.1,NM_001134402.1,NM_001134403.1,NM_001134404.1,NM_182580.2	29,29,,,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,,,probably-damaging	139/252,60/173,,,117/230	110038541	1,13005	2203	4300	6503	SO:0001583	missense	284613				electron transport chain|transport	integral to membrane	metal ion binding	g.chr1:110038541G>A	AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"""Cytochrome b genes"""	26804	protein-coding gene	gene with protein product			"""cytochrome b-561 domain containing 1"""			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.350G>A	1.37:g.110038541G>A	ENSP00000413530:p.Arg117His	True	False		Somatic	0				CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000393709.3_Missense_Mutation_p.R60H|CYB561D1_ENST00000369868.3_Missense_Mutation_p.R139H|CYB561D1_ENST00000528785.1_Missense_Mutation_p.R117H|CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000496961.1_3'UTR	p.R117H			WXS	Illumina HiSeq	Phase_I	Q8N8Q1	C56D1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	3	390	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	117			Cytochrome b561.		B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Missense_Mutation	SNP	ENST00000420578.2	37	c.350G>A	CCDS800.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047750	0.75846	2.27E-4	0.0	ENSG00000174151	ENST00000393709;ENST00000420578;ENST00000528785;ENST00000369868	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.35	5.35	0.76521	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.254613	0.37623	N	0.002004	T	0.49847	0.1581	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71414	0.931;0.973;0.96;0.973	T	0.36286	-0.9754	10	0.41790	T	0.15	-13.3439	16.1086	0.81244	0.0:0.0:1.0:0.0	.	139;117;60;79	Q8N8Q1-3;Q8N8Q1;E9PCM8;Q6ZQS1	.;C56D1_HUMAN;.;.	H	60;117;117;139	ENSP00000377312:R60H;ENSP00000413530:R117H;ENSP00000434344:R117H;ENSP00000358884:R139H	ENSP00000358884:R139H	R	+	2	0	CYB561D1	109840064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.453000	0.60061	2.788000	0.95919	0.555000	0.69702	CGC		0.637	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030384.1	0	NM_182580		1:110038541
ADAMTS19	171019	broad.mit.edu	37	5	129030474	129030474	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:129030474C>A	ENST00000274487.4	+	19	3007	c.2862C>A	c.(2860-2862)gaC>gaA	p.D954E	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	954	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCATTGTGGACAATGAGAAAT	0.368																																						ENST00000274487.4		NA																	0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2860-2862)gaC>gaA		ADAM metallopeptidase with thrombospondin type 1 motif, 19							125.0	116.0	119.0					5																	129030474		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129030474C>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2862C>A	5.37:g.129030474C>A	ENSP00000274487:p.Asp954Glu	False	False		Somatic	0				CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	p.D954E	NM_133638.3	NP_598377.3	WXS	Illumina HiSeq	Phase_I	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	19	3007	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	954			TSP type-1 2.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2862C>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994870	0.35226	.	.	ENSG00000145808	ENST00000274487	T	0.61040	0.14	4.08	2.31	0.28768	.	0.066129	0.64402	D	0.000018	T	0.36413	0.0966	N	0.16790	0.44	0.40226	D	0.977794	B	0.09022	0.002	B	0.09377	0.004	T	0.10823	-1.0613	9	.	.	.	.	10.5893	0.45300	0.0:0.8397:0.0:0.1603	.	954	Q8TE59	ATS19_HUMAN	E	954	ENSP00000274487:D954E	.	D	+	3	2	ADAMTS19	129058373	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.248000	0.32827	0.692000	0.31613	0.555000	0.69702	GAC		0.368	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	0	NM_133638		5:129030474
KCNMA1	3778	broad.mit.edu	37	10	78868281	78868281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:78868281C>T	ENST00000286628.8	-	9	1180	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	KCNMA1_ENST00000286627.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R394H	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	394					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GTATTTCTTGCGGTTTCCTAT	0.468																																						ENST00000286627.5		NA																	0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(1180-1182)cGc>cAc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						116.0	115.0	116.0					10																	78868281		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78868281C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1181G>A	10.37:g.78868281C>T	ENSP00000286628:p.Arg394His	False	False		Somatic	0				KCNMA1_ENST00000404857.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R394H|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R394H	p.R394H	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	WXS	Illumina HiSeq	Phase_I	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		9	2133	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		394					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.1181G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.003054|5.003054	0.93287|0.93287	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.86366	.|-2.1;-2.07;-2.08;-2.09;-2.1;-2.1;-2.1;-2.11;-2.09	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92805|0.92805	0.7712|0.7712	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P;P	.|0.89917	.|1.0;0.979;0.988;1.0;0.988;0.911;0.895	.|D;B;P;D;P;P;B	.|0.91635	.|0.999;0.372;0.674;0.991;0.576;0.557;0.372	D|D	0.92656|0.92656	0.6137|0.6137	5|10	.|0.87932	.|D	.|0	-11.5534|-11.5534	20.3248|20.3248	0.98698|0.98698	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|394;394;394;394;394;176;394	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.	T|H	345|394;331;329;368;331;394;394;368;394;394;394;176	.|ENSP00000361517:R394H;ENSP00000361485:R331H;ENSP00000361514:R329H;ENSP00000396608:R368H;ENSP00000361520:R394H;ENSP00000286627:R394H;ENSP00000385552:R394H;ENSP00000346321:R394H;ENSP00000385806:R394H	.|ENSP00000286627:R394H	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78538287|78538287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.463000|7.463000	0.80869|0.80869	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.468	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	0	NM_002247		10:78868281
TRRAP	8295	broad.mit.edu	37	7	98573795	98573795	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:98573795C>T	ENST00000359863.4	+	53	8051	c.7842C>T	c.(7840-7842)ttC>ttT	p.F2614F	TRRAP_ENST00000355540.3_Silent_p.F2596F|TRRAP_ENST00000446306.3_Silent_p.F2596F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2614					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGCGCTTTCGTTCAGCTGT	0.567																																						ENST00000359863.4		NA																	0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(7840-7842)ttC>ttT		transformation/transcription domain-associated protein							113.0	100.0	104.0					7																	98573795		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98573795C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7842C>T	7.37:g.98573795C>T		True	False		Somatic	0				TRRAP_ENST00000446306.3_Silent_p.F2596F|TRRAP_ENST00000355540.3_Silent_p.F2596F	p.F2614F	NM_001244580.1	NP_001231509.1	WXS	Illumina HiSeq	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		53	8051	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2614					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.7842C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287598	0.23478	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.06	0.591	0.17465	.	.	.	.	.	T	0.57917	0.2086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50508	-0.8820	4	.	.	.	.	9.9707	0.41752	0.0:0.372:0.0:0.628	.	.	.	.	L	2336	.	.	S	+	2	0	TRRAP	98411731	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	0.961000	0.29267	-0.129000	0.11620	-0.345000	0.07892	TCG		0.567	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	0	NM_003496		7:98573795
GPHB5	122876	broad.mit.edu	37	14	63784429	63784429	+	RNA	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:63784429G>A	ENST00000539258.1	-	0	191							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CTGGCTTCTTGGCCAGGAAAG	0.607																																						ENST00000539258.1		NA																	0				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7								glycoprotein hormone beta 5							41.0	45.0	44.0					14																	63784429		2006	4170	6176			122876					extracellular region	hormone activity	g.chr14:63784429G>A	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784429G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	Q86YW7	GPHB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)	0	191	-			NA					Q6NTD0|Q8NFW2	RNA	SNP	ENST00000539258.1	37																																																																																						0.607	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	0	NM_145171		14:63784429
TERT	7015	broad.mit.edu	37	5	1282622	1282622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:1282622G>A	ENST00000310581.5	-	3	1748	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	TERT_ENST00000334602.6_Missense_Mutation_p.T564M|TERT_ENST00000508104.2_Missense_Mutation_p.T564M|TERT_ENST00000296820.5_Missense_Mutation_p.T564M	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	564					DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CGTGGTCTCCGTGACATAAAA	0.532									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1690-1692)aCg>aTg		telomerase reverse transcriptase							128.0	119.0	122.0					5																	1282622		2203	4300	6503	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1282622G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1691C>T	5.37:g.1282622G>A	ENSP00000309572:p.Thr564Met	False	False		Somatic	0				TERT_ENST00000334602.6_Missense_Mutation_p.T564M|TERT_ENST00000296820.5_Missense_Mutation_p.T564M|TERT_ENST00000508104.2_Missense_Mutation_p.T564M	p.T564M	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	WXS	Illumina HiSeq	Phase_I	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	1748	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		564					O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.1691C>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769850	0.49680	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	4.64	4.64	0.57946	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.048739	0.85682	N	0.000000	D	0.97810	0.9281	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99146	1.0857	10	0.87932	D	0	-3.0526	17.5052	0.87743	0.0:0.0:1.0:0.0	.	564;564;564	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	M	564	ENSP00000309572:T564M;ENSP00000296820:T564M;ENSP00000334346:T564M;ENSP00000426042:T564M	ENSP00000296820:T564M	T	-	2	0	TERT	1335622	1.000000	0.71417	0.978000	0.43139	0.722000	0.41435	6.959000	0.76031	2.115000	0.64714	0.462000	0.41574	ACG		0.532	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2	0			5:1282622
DMGDH	29958	broad.mit.edu	37	5	78326807	78326807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:78326807C>T	ENST00000255189.3	-	10	1560	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	511					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTGTGCGGCGAAAACT	0.398																																						ENST00000255189.3		NA																	0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1531-1533)cGc>cAc		dimethylglycine dehydrogenase							76.0	75.0	76.0					5																	78326807		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78326807C>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1532G>A	5.37:g.78326807C>T	ENSP00000255189:p.Arg511His	False	False		Somatic	0				DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	p.R511H	NM_013391.2	NP_037523.2	WXS	Illumina HiSeq	Phase_I	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	10	1560	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	511					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1532G>A	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357047	0.95854	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.997;0.994	D;P;P;P	0.91635	0.999;0.829;0.856;0.722	D	0.94474	0.7687	10	0.72032	D	0.01	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	131;310;361;511	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	H	511;350;310;131;361	ENSP00000255189:R511H;ENSP00000430972:R350H;ENSP00000369667:R310H;ENSP00000439478:R131H	ENSP00000255189:R511H	R	-	2	0	DMGDH	78362563	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.729000	0.84864	2.771000	0.95319	0.563000	0.77884	CGC		0.398	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	0	NM_013391		5:78326807
TRAV3	28690	broad.mit.edu	37	14	22192111	22192111	+	RNA	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:22192111G>A	ENST00000390425.2	+	0	152									T cell receptor alpha variable 3 (gene/pseudogene)																		CCCCAATCCCGCCCGCCGTGA	0.577																																						ENST00000390425.2		NA																	0					NA															108.0	108.0	108.0					14																	22192111		1931	4126	6057			0							g.chr14:22192111G>A	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192111G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	152	+			NA						RNA	SNP	ENST00000390425.2	37																																																																																						0.577	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	0	NG_001332		14:22192111
PCDHB11	56125	broad.mit.edu	37	5	140580809	140580809	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140580809T>C	ENST00000354757.3	+	1	1462	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Y123H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCAACTACTCGCTACT	0.632																																						ENST00000354757.3		NA																	0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1462-1464)Tac>Cac									136.0	135.0	135.0					5																	140580809		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580809T>C	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1462T>C	5.37:g.140580809T>C	ENSP00000346802:p.Tyr488His	False	False		Somatic	0				PCDHB11_ENST00000536699.1_Missense_Mutation_p.Y123H	p.Y488H	NM_018931.2	NP_061754.1	WXS	Illumina HiSeq	Phase_I	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1462	+			488			Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1462T>C	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	t	18.67	3.674200	0.67928	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.62941	-0.01;-0.01	2.51	2.51	0.30379	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85665	0.5749	H	0.99058	4.415	0.37148	D	0.902036	D	0.89917	1.0	D	0.97110	1.0	D	0.89861	0.4016	9	0.87932	D	0	.	10.4143	0.44311	0.0:0.0:0.0:1.0	.	488	Q9Y5F2	PCDBB_HUMAN	H	123;488	ENSP00000440344:Y123H;ENSP00000346802:Y488H	ENSP00000346802:Y488H	Y	+	1	0	PCDHB11	140560993	0.783000	0.28701	0.930000	0.37139	0.067000	0.16453	2.392000	0.44433	1.160000	0.42584	0.248000	0.18094	TAC		0.632	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	0	NM_018931		5:140580809
SLC38A8	146167	broad.mit.edu	37	16	84050178	84050178	+	Missense_Mutation	SNP	C	C	T	rs149742482	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:84050178C>T	ENST00000299709.3	-	8	1107	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	370					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGACGATCTCGCTGAGGTCA	0.607																																						ENST00000299709.3		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1108-1110)Gag>Aag		solute carrier family 38, member 8		C	LYS/GLU	0,4400		0,0,2200	91.0	76.0	81.0		1108	-1.1	0.5	16	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC38A8	NM_001080442.1	56	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	benign	370/436	84050178	2,12998	2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050178C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1108G>A	16.37:g.84050178C>T	ENSP00000299709:p.Glu370Lys	False	False		Somatic	0					p.E370K	NM_001080442.1	NP_001073911.1	WXS	Illumina HiSeq	Phase_I	A6NNN8	S38A8_HUMAN			8	1107	-			370						Missense_Mutation	SNP	ENST00000299709.3	37	c.1108G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.414452	0.01145	0.0	2.33E-4	ENSG00000166558	ENST00000299709	T	0.02067	4.47	4.47	-1.14	0.09741	.	0.554792	0.19437	N	0.114283	T	0.01092	0.0036	N	0.14661	0.345	0.36854	D	0.88807	B	0.23540	0.087	B	0.21360	0.034	T	0.49934	-0.8886	10	0.05833	T	0.94	.	5.3489	0.16024	0.0:0.4325:0.1427:0.4248	.	370	A6NNN8	S38A8_HUMAN	K	370	ENSP00000299709:E370K	ENSP00000299709:E370K	E	-	1	0	SLC38A8	82607679	0.135000	0.22499	0.486000	0.27416	0.168000	0.22595	0.078000	0.14761	-0.231000	0.09825	0.478000	0.44815	GAG		0.607	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	0	NM_001080442		16:84050178
MBNL1	4154	broad.mit.edu	37	3	152150611	152150611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:152150611C>T	ENST00000463374.1	+	3	962	c.451C>T	c.(451-453)Ccg>Tcg	p.P151S	MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000324196.5_Missense_Mutation_p.P151S|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324210.5_Missense_Mutation_p.P151S|MBNL1_ENST00000355460.2_Missense_Mutation_p.P151S|MBNL1_ENST00000357472.3_Missense_Mutation_p.P151S|MBNL1_ENST00000493459.1_Missense_Mutation_p.P94S|MBNL1_ENST00000492948.1_Missense_Mutation_p.P151S|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000498502.1_Missense_Mutation_p.P151S|MBNL1_ENST00000485509.1_Missense_Mutation_p.P151S|MBNL1_ENST00000282486.6_Missense_Mutation_p.P151S	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	151					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGAGATCTTGCCGACTGCACC	0.532																																						ENST00000282486.6		NA																	0				endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(451-453)Ccg>Tcg		muscleblind-like splicing regulator 1							125.0	131.0	129.0					3																	152150611		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152150611C>T	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.451C>T	3.37:g.152150611C>T	ENSP00000418108:p.Pro151Ser	False	False		Somatic	0				MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000493459.1_Missense_Mutation_p.P94S|MBNL1_ENST00000355460.2_Missense_Mutation_p.P151S|MBNL1_ENST00000324196.5_Missense_Mutation_p.P151S|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000357472.3_Missense_Mutation_p.P151S|MBNL1_ENST00000492948.1_Missense_Mutation_p.P151S|MBNL1_ENST00000463374.1_Missense_Mutation_p.P151S|MBNL1_ENST00000498502.1_Missense_Mutation_p.P151S|MBNL1_ENST00000324210.5_Missense_Mutation_p.P151S|MBNL1_ENST00000485509.1_Missense_Mutation_p.P151S|MBNL1_ENST00000545754.1_Intron	p.P151S			WXS	Illumina HiSeq	Phase_I	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	2293	+			151					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.451C>T	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134710	0.94517	.	.	ENSG00000152601	ENST00000282486;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000357472;ENST00000463374;ENST00000492948;ENST00000485509;ENST00000478535	T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.86953	2.85	0.80722	D	1	D;P;P;D;D;D;D	0.89917	1.0;0.947;0.725;1.0;0.974;1.0;1.0	D;P;P;D;P;D;D	0.91635	0.999;0.677;0.779;0.988;0.742;0.992;0.999	T	0.76102	-0.3082	10	0.59425	D	0.04	-12.4426	18.3327	0.90276	0.0:1.0:0.0:0.0	.	151;151;151;151;94;151;151	C9JP00;E9PBW7;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;MBNL1_HUMAN;.;.;.;.	S	151;151;59;94;151;59;151;151;151;151;151;151;54	ENSP00000282486:P151S;ENSP00000347637:P151S;ENSP00000417741:P59S;ENSP00000419347:P94S;ENSP00000319429:P151S;ENSP00000420680:P59S;ENSP00000420327:P151S;ENSP00000319374:P151S;ENSP00000350064:P151S;ENSP00000418108:P151S;ENSP00000420103:P151S;ENSP00000418876:P151S;ENSP00000418508:P54S	ENSP00000282486:P151S	P	+	1	0	MBNL1	153633301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.895000	0.75660	2.396000	0.81511	0.563000	0.77884	CCG		0.532	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	0	NM_021038		3:152150611
MAP2K4	6416	broad.mit.edu	37	17	12043158	12043158	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:12043158T>G	ENST00000353533.5	+	10	1106	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	MAP2K4_ENST00000415385.3_Missense_Mutation_p.L359R	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	348	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(2)|p.L348R(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TATTTTAGCCTTACGAAGGAT	0.333			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3		NA		Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		13	Whole gene deletion(10)|Unknown(2)|Substitution - Missense(1)	p.0?(10)|p.?(2)|p.L348R(1)	ovary(4)|breast(4)|biliary_tract(2)|pancreas(2)|lung(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1075-1077)cTt>cGt		mitogen-activated protein kinase kinase 4							112.0	118.0	116.0					17																	12043158		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12043158T>G	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1043T>G	17.37:g.12043158T>G	ENSP00000262445:p.Leu348Arg	False	False		Somatic	0				MAP2K4_ENST00000353533.5_Missense_Mutation_p.L348R	p.L359R	NM_001281435.1	NP_001268364.1	WXS	Illumina HiSeq	Phase_I	P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	11	1129	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	348			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.1076T>G	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507873	0.85282	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.34472	1.36;1.36	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.80596	-0.1312	10	0.87932	D	0	.	14.9931	0.71406	0.0:0.0:0.0:1.0	.	220;359;348	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	R	348;359;325;220	ENSP00000262445:L348R;ENSP00000410402:L359R	ENSP00000262445:L348R	L	+	2	0	MAP2K4	11983883	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	CTT		0.333	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	0			17:12043158
ARHGAP17	55114	broad.mit.edu	37	16	24971282	24971282	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:24971282T>G	ENST00000289968.6	-	8	661	c.592A>C	c.(592-594)Atg>Ctg	p.M198L	ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M198L|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M198L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	198	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGTTGTACATGTCTGCTGCA	0.383																																						ENST00000289968.6		NA																	0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(592-594)Atg>Ctg		Rho GTPase activating protein 17							117.0	116.0	116.0					16																	24971282		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24971282T>G	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.592A>C	16.37:g.24971282T>G	ENSP00000289968:p.Met198Leu	False	False		Somatic	0				ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M198L|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M198L	p.M198L	NM_001006634.1	NP_001006635.1	WXS	Illumina HiSeq	Phase_I	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	8	661	-			198			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.592A>C	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	T	7.735	0.700058	0.15106	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.50277	0.75;0.75;0.75	5.67	5.67	0.87782	BAR (3);	0.000000	0.52532	D	0.000072	T	0.41673	0.1169	L	0.42581	1.335	0.43632	D	0.996021	B;B;B;B	0.22080	0.015;0.064;0.008;0.064	B;B;B;B	0.24701	0.011;0.055;0.015;0.055	T	0.23084	-1.0198	10	0.25751	T	0.34	.	13.8404	0.63435	0.0:0.0:0.0:1.0	.	198;198;198;198	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	L	198	ENSP00000289968:M198L;ENSP00000303130:M198L;ENSP00000406950:M198L	ENSP00000289968:M198L	M	-	1	0	ARHGAP17	24878783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.068000	0.50018	2.153000	0.67306	0.477000	0.44152	ATG		0.383	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	0	NM_018054		16:24971282
NOTCH3	4854	broad.mit.edu	37	19	15297738	15297738	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:15297738G>A	ENST00000263388.2	-	12	1977	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	634	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCCATCACGGCAGACTCCAA	0.577																																						ENST00000263388.2		NA																	0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(1900-1902)tgC>tgT		notch 3							110.0	83.0	92.0					19																	15297738		2203	4300	6503	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15297738G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1902C>T	19.37:g.15297738G>A		False	False		Somatic	0					p.C634C	NM_000435.2	NP_000426.2	WXS	Illumina HiSeq	Phase_I	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		12	1977	-			634			EGF-like 16; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.1902C>T	CCDS12326.1																																																																																				0.577	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	0	NM_000435		19:15297738
GABRA6	2559	broad.mit.edu	37	5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Intron			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	84					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTTTTTTTCCGCCAGACCTG	0.408										TCGA Ovarian(5;0.080)																												ENST00000274545.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(250-252)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						81.0	83.0	82.0					5																	161115979		2203	4299	6502	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161115979C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.250C>T	5.37:g.161115979C>T	ENSP00000274545:p.Arg84Cys	False	False	TCGA Ovarian(5;0.080)	Somatic	0				GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Intron	p.R84C			WXS	Illumina HiSeq	Phase_I	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	683	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	84					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.250C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915608	0.92178	.	.	ENSG00000145863	ENST00000274545;ENST00000517823	T;T	0.80566	-1.39;-1.39	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94213	0.7460	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	84	Q16445	GBRA6_HUMAN	C	84;31	ENSP00000274545:R84C;ENSP00000430212:R31C	ENSP00000274545:R84C	R	+	1	0	GABRA6	161048557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.843000	0.69424	2.824000	0.97209	0.655000	0.94253	CGC		0.408	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2	0			5:161115979
ARHGAP5	394	broad.mit.edu	37	14	32559928	32559928	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:32559928T>A	ENST00000345122.3	+	2	368	c.53T>A	c.(52-54)gTt>gAt	p.V18D	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V18D|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V18D	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	18					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAGTATAGTTGGACTCTCT	0.393																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3		NA																	0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(52-54)gTt>gAt		Rho GTPase activating protein 5							95.0	93.0	93.0					14																	32559928		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32559928T>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.53T>A	14.37:g.32559928T>A	ENSP00000371897:p.Val18Asp	False	False		Somatic	0				ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V18D	p.V18D	NM_001030055.1	NP_001025226.1	WXS	Illumina HiSeq	Phase_I	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	368	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		18					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.53T>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770967	0.90108	.	.	ENSG00000100852	ENST00000555814;ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T;T	0.66280	-0.2;1.98;1.98;1.98;1.98;0.25	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.83334	-0.0011	10	0.87932	D	0	.	15.4475	0.75243	0.0:0.0:0.0:1.0	.	18;18	Q13017-2;Q13017	.;RHG05_HUMAN	D	18	ENSP00000452372:V18D;ENSP00000452222:V18D;ENSP00000441692:V18D;ENSP00000371897:V18D;ENSP00000393307:V18D;ENSP00000451579:V18D	ENSP00000371897:V18D	V	+	2	0	ARHGAP5	31629679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.098000	0.63641	0.528000	0.53228	GTT		0.393	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	0	NM_001030055		14:32559928
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						ENST00000401959.1		NA																	0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							83.0	76.0	79.0					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys	False	False		Somatic	0				NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR	p.R84C	NM_005008.3	NP_004999.1	WXS	Illumina HiSeq	Phase_I	P55769	NH2L1_HUMAN			4	566	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	0	NM_001003796		22:42071074
ST6GALNAC5	81849	broad.mit.edu	37	1	77334298	77334298	+	Silent	SNP	G	G	A	rs554217920	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	44	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcaacagcagc	0.711													G|||	2	0.000399361	0.0	0.0	5008	,	,		11676	0.002		0.0	False		,,,				2504	0.0					ENST00000477717.1		NA																	0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(130-132)caG>caA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							12.0	12.0	12.0					1																	77334298		2054	3972	6026	SO:0001819	synonymous_variant	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334298G>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.132G>A	1.37:g.77334298G>A		True	False		Somatic	0				ST6GALNAC5_ENST00000496845.1_3'UTR	p.Q44Q	NM_030965.1	NP_112227.1	WXS	Illumina HiSeq	Phase_I	Q9BVH7	SIA7E_HUMAN			2	367	+			44			Poly-Gln.		B1AK82	Silent	SNP	ENST00000477717.1	37	c.132G>A	CCDS673.1																																																																																				0.711	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	0	NM_030965		1:77334298
BRINP2	57795	broad.mit.edu	37	1	177247848	177247848	+	Missense_Mutation	SNP	C	C	T	rs138472115		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:177247848C>T	ENST00000361539.4	+	7	1474	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	388					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											AAAGACCCATCGGATCCTACG	0.612																																						ENST00000361539.4		NA																	0					NA						c.(1162-1164)Cgg>Tgg		bone morphogenetic protein/retinoic acid inducible neural-specific 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	96.0	95.0		1162	5.4	0.9	1	dbSNP_134	95	0,8600		0,0,4300	no	missense	FAM5B	NM_021165.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	388/784	177247848	1,13005	2203	4300	6503	SO:0001583	missense	57795							g.chr1:177247848C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1162C>T	1.37:g.177247848C>T	ENSP00000354481:p.Arg388Trp	False	False		Somatic	0				BRINP2_ENST00000478325.1_3'UTR	p.R388W	NM_021165.2	NP_066988.1	WXS	Illumina HiSeq	Phase_I					7	1474	+			388					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1162C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586507	0.66105	2.27E-4	0.0	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.16897	2.31	5.39	5.39	0.77823	.	0.309039	0.35040	N	0.003497	T	0.34832	0.0911	L	0.57536	1.79	0.34722	D	0.728799	D;D;D	0.89917	1.0;1.0;0.994	P;P;P	0.62014	0.897;0.857;0.451	T	0.47249	-0.9132	10	0.87932	D	0	-23.9127	13.6933	0.62562	0.1543:0.8457:0.0:0.0	.	138;283;388	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	W	138;388	ENSP00000354481:R388W	ENSP00000354481:R388W	R	+	1	2	FAM5B	175514471	0.317000	0.24589	0.868000	0.34077	0.988000	0.76386	2.437000	0.44828	2.528000	0.85240	0.655000	0.94253	CGG		0.612	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	0	NM_021165		1:177247848
MTR	4548	broad.mit.edu	37	1	237054527	237054527	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:237054527C>G	ENST00000366577.5	+	29	3496	c.3102C>G	c.(3100-3102)ttC>ttG	p.F1034L	MTR_ENST00000535889.1_Missense_Mutation_p.F983L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1034	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGGTTGGGTTCTGGCCAGCAC	0.542																																						ENST00000366577.5		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(3100-3102)ttC>ttG		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						115.0	117.0	117.0					1																	237054527		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237054527C>G	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3102C>G	1.37:g.237054527C>G	ENSP00000355536:p.Phe1034Leu	False	False		Somatic	0				MTR_ENST00000535889.1_Missense_Mutation_p.F983L	p.F1034L	NM_000254.2	NP_000245.2	WXS	Illumina HiSeq	Phase_I	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	29	3496	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1034			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.3102C>G	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232160	0.39498	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.75477	-0.94;-0.94;-0.94	5.48	4.57	0.56435	Vitamin B12-dependent methionine synthase, activation domain (3);	0.173034	0.51477	D	0.000096	T	0.57636	0.2067	L	0.28740	0.885	0.47276	D	0.999379	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.12837	0.008;0.006;0.008	T	0.50792	-0.8786	10	0.05351	T	0.99	-18.3064	11.5051	0.50461	0.0:0.8551:0.0:0.1449	.	1034;983;1034	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	L	888;1034;983;588	ENSP00000355536:F1034L;ENSP00000441845:F983L;ENSP00000355535:F588L	ENSP00000355535:F588L	F	+	3	2	MTR	235121150	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.751000	0.38339	1.307000	0.44944	0.561000	0.74099	TTC		0.542	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	0	NM_000254		1:237054527
TTC17	55761	broad.mit.edu	37	11	43419628	43419628	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:43419628G>A	ENST00000039989.4	+	8	1037	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	TTC17_ENST00000299240.6_Silent_p.Q341Q|TTC17_ENST00000526774.1_3'UTR|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	341					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCCTATGTCAGCAAAAACTGG	0.438																																						ENST00000039989.4		NA																	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(1021-1023)caG>caA		tetratricopeptide repeat domain 17							133.0	120.0	124.0					11																	43419628		2203	4300	6503	SO:0001819	synonymous_variant	55761						binding	g.chr11:43419628G>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1023G>A	11.37:g.43419628G>A		False	False		Somatic	0				TTC17_ENST00000299240.6_Silent_p.Q341Q|TTC17_ENST00000526774.1_3'UTR	p.Q341Q	NM_018259.5	NP_060729.2	WXS	Illumina HiSeq	Phase_I	Q96AE7	TTC17_HUMAN			8	1037	+			341					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.1023G>A	CCDS31466.1																																																																																				0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	0	NM_018259		11:43419628
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
CNTN4	152330	broad.mit.edu	37	3	2777910	2777910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:2777910C>A	ENST00000397461.1	+	4	451	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	CNTN4_ENST00000418658.1_Missense_Mutation_p.L23M|CNTN4_ENST00000427331.1_Missense_Mutation_p.L23M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	23					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGATTCCACACTGCATGGCCC	0.363																																						ENST00000397461.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(67-69)Ctg>Atg		contactin 4							174.0	167.0	169.0					3																	2777910		1850	4085	5935	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2777910C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.67C>A	3.37:g.2777910C>A	ENSP00000380602:p.Leu23Met	False	False		Somatic	0				CNTN4_ENST00000427331.1_Missense_Mutation_p.L23M|CNTN4_ENST00000418658.1_Missense_Mutation_p.L23M	p.L23M	NM_001206955.1	NP_001193884.1	WXS	Illumina HiSeq	Phase_I	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	4	451	+		Ovarian(110;0.156)	23					B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.67C>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613697	0.66672	.	.	ENSG00000144619	ENST00000422330;ENST00000455083;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.68903	-0.31;0.38;0.38;-0.36;0.38	6.07	6.07	0.98685	.	0.226293	0.30003	N	0.010655	T	0.78509	0.4294	L	0.54323	1.7	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.62649	0.862;0.905	T	0.74225	-0.3734	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	23;23	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	23;23;23;23;41;23	ENSP00000408594:L23M;ENSP00000396010:L23M;ENSP00000380602:L23M;ENSP00000404085:L41M;ENSP00000413642:L23M	ENSP00000380602:L23M	L	+	1	2	CNTN4	2752910	0.829000	0.29322	0.933000	0.37362	0.903000	0.53119	1.506000	0.35747	2.885000	0.99019	0.655000	0.94253	CTG		0.363	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	0			3:2777910
SPATA31D1	389763	broad.mit.edu	37	9	84607903	84607903	+	Missense_Mutation	SNP	G	G	A	rs568626063	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:84607903G>A	ENST00000344803.2	+	4	2565	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	840					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAAATTTGAGGAAATCAATGA	0.443													G|||	6	0.00119808	0.0008	0.0058	5008	,	,		20694	0.0		0.001	False		,,,				2504	0.0					ENST00000344803.2		NA																	0					NA						c.(2518-2520)Gaa>Aaa		SPATA31 subfamily D, member 1							94.0	85.0	88.0					9																	84607903		1874	4101	5975	SO:0001583	missense	389763							g.chr9:84607903G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2518G>A	9.37:g.84607903G>A	ENSP00000341988:p.Glu840Lys	True	False		Somatic	0					p.E840K	NM_001001670.2	NP_001001670.1	WXS	Illumina HiSeq	Phase_I					4	2565	+			NA						Missense_Mutation	SNP	ENST00000344803.2	37	c.2518G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119845	0.37436	.	.	ENSG00000214929	ENST00000344803	T	0.08458	3.09	2.7	-2.15	0.07102	.	1.074330	0.07204	N	0.858027	T	0.08802	0.0218	M	0.64404	1.975	0.09310	N	1	P	0.35542	0.508	B	0.36845	0.234	T	0.34004	-0.9846	10	0.66056	D	0.02	-3.9222	0.5637	0.00683	0.2548:0.2456:0.3205:0.1792	.	840	Q6ZQQ2	F75D1_HUMAN	K	840	ENSP00000341988:E840K	ENSP00000341988:E840K	E	+	1	0	FAM75D1	83797723	0.297000	0.24408	0.003000	0.11579	0.003000	0.03518	0.083000	0.14871	-0.473000	0.06871	-0.253000	0.11424	GAA		0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	0	NM_001001670		9:84607903
NANS	54187	broad.mit.edu	37	9	100843173	100843173	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:100843173G>A	ENST00000210444.5	+	5	749	c.679G>A	c.(679-681)Gca>Aca	p.A227T	TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_5'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	227					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				ATCTGTGGCCGCAGTGGCTCT	0.498																																						ENST00000210444.5		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(679-681)Gca>Aca		N-acetylneuraminic acid synthase							80.0	79.0	79.0					9																	100843173		2203	4300	6503	SO:0001583	missense	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100843173G>A	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.679G>A	9.37:g.100843173G>A	ENSP00000210444:p.Ala227Thr	False	False		Somatic	0				TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR	p.A227T	NM_018946.3	NP_061819.2	WXS	Illumina HiSeq	Phase_I	Q9NR45	SIAS_HUMAN			5	749	+		Acute lymphoblastic leukemia(62;0.0559)	227					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	c.679G>A	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789100	0.90367	.	.	ENSG00000095380	ENST00000210444;ENST00000415280;ENST00000427646	T;T;T	0.69685	-0.42;-0.42;-0.42	5.57	4.68	0.58851	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84969	0.5590	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.966	D	0.88746	0.3247	10	0.87932	D	0	-17.8373	14.0799	0.64914	0.0:0.0:0.8483:0.1517	.	63;227	E9PGK0;Q9NR45	.;SIAS_HUMAN	T	227;86;35	ENSP00000210444:A227T;ENSP00000404107:A86T;ENSP00000404642:A35T	ENSP00000210444:A227T	A	+	1	0	NANS	99882994	1.000000	0.71417	0.240000	0.24138	0.946000	0.59487	9.441000	0.97557	1.508000	0.48769	0.650000	0.86243	GCA		0.498	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	0	NM_018946		9:100843173
FOLH1	2346	broad.mit.edu	37	11	49186293	49186293	+	Silent	SNP	C	C	T	rs370741711		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:49186293C>T	ENST00000256999.2	-	13	1664	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_ENST00000340334.7_Silent_p.P453P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000533034.1_Silent_p.P453P	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGTACATCAGCGGTGTACAAT	0.284																																						ENST00000340334.7		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1357-1359)ccG>ccA		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						41.0	42.0	42.0					11																	49186293		2197	4295	6492	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186293C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1404G>A	11.37:g.49186293C>T		False	False		Somatic	0				FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Silent_p.P468P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000533034.1_Silent_p.P453P	p.P453P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	WXS	Illumina HiSeq	Phase_I	Q04609	FOLH1_HUMAN			14	1727	-			468			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1359G>A	CCDS7946.1																																																																																				0.284	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	0	NM_004476		11:49186293
FAM208B	54906	broad.mit.edu	37	10	5789903	5789903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:5789903G>A	ENST00000328090.5	+	15	5144	c.4519G>A	c.(4519-4521)Gag>Aag	p.E1507K		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1507																	TGTCTCAAGTGAGCATGATGA	0.473																																						ENST00000328090.5		NA																	0					NA						c.(4519-4521)Gag>Aag		family with sequence similarity 208, member B							62.0	62.0	62.0					10																	5789903		1931	4132	6063	SO:0001583	missense	54906							g.chr10:5789903G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4519G>A	10.37:g.5789903G>A	ENSP00000328426:p.Glu1507Lys	False	False		Somatic	0					p.E1507K	NM_017782.4	NP_060252	WXS	Illumina HiSeq	Phase_I	Q5VWN6	CJ018_HUMAN			15	5144	+			1507					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.4519G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	3.982	-0.006255	0.07773	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04917	3.53	5.39	-1.85	0.07784	.	0.464108	0.19978	N	0.101822	T	0.03783	0.0107	L	0.39633	1.23	0.09310	N	1	B	0.17852	0.024	B	0.15052	0.012	T	0.42716	-0.9435	10	0.15066	T	0.55	.	3.0485	0.06161	0.3812:0.0:0.3045:0.3142	.	1507	Q5VWN6	F208B_HUMAN	K	1507;702	ENSP00000328426:E1507K	ENSP00000328426:E1507K	E	+	1	0	C10orf18	5829909	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.263000	0.18478	-0.004000	0.14419	-0.140000	0.14226	GAG		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	0	NM_017782		10:5789903
KMT2C	58508	broad.mit.edu	37	7	151877209	151877209	+	Silent	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:151877209C>A	ENST00000262189.6	-	37	7370	c.7152G>T	c.(7150-7152)cgG>cgT	p.R2384R	KMT2C_ENST00000355193.2_Silent_p.R2384R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2384					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTAACTTCTGCCGCTAAATGG	0.433																																						ENST00000355193.2		NA																	0					NA						c.(7150-7152)cgG>cgT		lysine (K)-specific methyltransferase 2C							151.0	142.0	145.0					7																	151877209		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151877209C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7152G>T	7.37:g.151877209C>A		False	False		Somatic	0				KMT2C_ENST00000262189.6_Silent_p.R2384R	p.R2384R			WXS	Illumina HiSeq	Phase_I					37	7370	-			NA					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.7152G>T	CCDS5931.1																																																																																				0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3	0			7:151877209
CASR	846	broad.mit.edu	37	3	122003470	122003470	+	Missense_Mutation	SNP	G	G	A	rs567996888		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:122003470G>A	ENST00000490131.1	+	7	3041	c.2669G>A	c.(2668-2670)cGc>cAc	p.R890H	CASR_ENST00000498619.1_Missense_Mutation_p.R900H|CASR_ENST00000296154.5_Missense_Mutation_p.R890H|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	890	Interaction with RNF19A.				anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCACGCTGCGCCGCAGCAAC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18372	0.001		0.0	False		,,,				2504	0.0					ENST00000498619.1		NA																	0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2698-2700)cGc>cAc		calcium-sensing receptor	Cinacalcet(DB01012)						30.0	31.0	31.0					3																	122003470		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003470G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2669G>A	3.37:g.122003470G>A	ENSP00000418685:p.Arg890His	False	False		Somatic	0				CASR_ENST00000490131.1_Missense_Mutation_p.R890H|CASR_ENST00000296154.5_Missense_Mutation_p.R890H	p.R900H	NM_001178065.1	NP_001171536	WXS	Illumina HiSeq	Phase_I	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3137	+			890			Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2699G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257873	0.80246	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89485	-2.52;-2.52;-2.52	5.89	5.89	0.94794	.	0.050341	0.85682	D	0.000000	D	0.86879	0.6039	L	0.32530	0.975	0.52501	D	0.999953	D;D	0.58620	0.983;0.983	P;P	0.45474	0.482;0.482	D	0.88288	0.2941	10	0.72032	D	0.01	.	19.2448	0.93898	0.0:0.0:1.0:0.0	.	900;890	E7ENE0;P41180	.;CASR_HUMAN	H	890;900;890	ENSP00000418685:R890H;ENSP00000420194:R900H;ENSP00000296154:R890H	ENSP00000296154:R890H	R	+	2	0	CASR	123486160	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.479000	0.81095	2.793000	0.96121	0.561000	0.74099	CGC		0.627	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	0	NM_000388		3:122003470
THRAP3	9967	broad.mit.edu	37	1	36766557	36766557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:36766557G>A	ENST00000354618.5	+	10	2598	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T	THRAP3_ENST00000469141.2_Missense_Mutation_p.A792T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	792	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCTACAAAGCAGAAGAGTA	0.502			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5		NA		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(2374-2376)Gca>Aca		thyroid hormone receptor associated protein 3							73.0	71.0	72.0					1																	36766557		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36766557G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2374G>A	1.37:g.36766557G>A	ENSP00000346634:p.Ala792Thr	True	False		Somatic	0				THRAP3_ENST00000469141.2_Missense_Mutation_p.A792T	p.A792T	NM_005119.3	NP_005110.2	WXS	Illumina HiSeq	Phase_I	Q9Y2W1	TR150_HUMAN			10	2598	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	792					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2374G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476580	0.84640	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15718	2.4;2.4	5.4	5.4	0.78164	.	0.074233	0.56097	D	0.000033	T	0.34832	0.0911	L	0.51422	1.61	0.45330	D	0.998325	D	0.64830	0.994	P	0.60173	0.87	T	0.01561	-1.1324	10	0.62326	D	0.03	-4.5675	18.5314	0.90993	0.0:0.0:1.0:0.0	.	792	Q9Y2W1	TR150_HUMAN	T	792	ENSP00000346634:A792T;ENSP00000433825:A792T	ENSP00000346634:A792T	A	+	1	0	THRAP3	36539144	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.957000	0.87870	2.705000	0.92388	0.650000	0.86243	GCA		0.502	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	0	NM_005119		1:36766557
HECTD2	143279	broad.mit.edu	37	10	93261004	93261004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:93261004A>G	ENST00000298068.5	+	20	2217	c.2123A>G	c.(2122-2124)cAt>cGt	p.H708R	HECTD2_ENST00000536715.1_Missense_Mutation_p.H297R|HECTD2_ENST00000446394.1_Missense_Mutation_p.H712R|HECTD2_ENST00000371667.1_Missense_Mutation_p.H358R	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	708	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AAGTTGCTACATTTTACTACA	0.353																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1		NA																	0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(2134-2136)cAt>cGt		HECT domain containing E3 ubiquitin protein ligase 2							143.0	142.0	143.0					10																	93261004		2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93261004A>G	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2123A>G	10.37:g.93261004A>G	ENSP00000298068:p.His708Arg	True	False		Somatic	0				HECTD2_ENST00000536715.1_Missense_Mutation_p.H297R|HECTD2_ENST00000298068.5_Missense_Mutation_p.H708R|HECTD2_ENST00000371667.1_Missense_Mutation_p.H358R	p.H712R	NM_001284274.1	NP_001271203.1	WXS	Illumina HiSeq	Phase_I	Q5U5R9	HECD2_HUMAN			21	2235	+			708			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.2135A>G	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198465	0.38806	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.73	5.73	0.89815	HECT (4);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	N	0.02181	-0.65	0.54753	D	0.999988	B;B	0.17667	0.001;0.023	B;B	0.15870	0.002;0.014	T	0.24368	-1.0162	10	0.07030	T	0.85	.	14.5862	0.68326	1.0:0.0:0.0:0.0	.	712;708	E7ERR3;Q5U5R9	.;HECD2_HUMAN	R	712;708;297;358	ENSP00000401023:H712R;ENSP00000298068:H708R;ENSP00000439687:H297R;ENSP00000360731:H358R	ENSP00000298068:H708R	H	+	2	0	HECTD2	93250984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.837000	0.75354	2.180000	0.69256	0.533000	0.62120	CAT		0.353	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1	0			10:93261004
EPHA2	1969	broad.mit.edu	37	1	16458656	16458656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:16458656C>T	ENST00000358432.5	-	13	2382	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	743	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GAGGATGTTGCGGGCAGCCAG	0.612																																						ENST00000358432.5		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2227-2229)cGc>cAc		EPH receptor A2	Dasatinib(DB01254)						177.0	152.0	161.0					1																	16458656		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16458656C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2228G>A	1.37:g.16458656C>T	ENSP00000351209:p.Arg743His	True	False		Somatic	0					p.R743H	NM_004431.3	NP_004422.2	WXS	Illumina HiSeq	Phase_I	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	13	2382	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	743			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2228G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577998	0.96565	.	.	ENSG00000142627	ENST00000358432	D	0.87729	-2.29	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000015	D	0.95277	0.8468	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95654	0.8709	10	0.87932	D	0	.	18.1378	0.89627	0.0:1.0:0.0:0.0	.	743	P29317	EPHA2_HUMAN	H	743	ENSP00000351209:R743H	ENSP00000351209:R743H	R	-	2	0	EPHA2	16331243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CGC		0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	0	NM_004431		1:16458656
PLEC	5339	broad.mit.edu	37	8	145024775	145024775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:145024775G>A	ENST00000322810.4	-	1	269	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	34	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCAAGCTGCGGGGCCGCCGG	0.692																																						ENST00000322810.4		NA																	0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(100-102)Cgc>Tgc		plectin							10.0	15.0	13.0					8																	145024775		2076	4177	6253	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145024775G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.100C>T	8.37:g.145024775G>A	ENSP00000323856:p.Arg34Cys	True	False		Somatic	0				PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron	p.R34C	NM_201380.2	NP_958782.1	WXS	Illumina HiSeq	Phase_I	Q15149	PLEC_HUMAN			1	269	-			34			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.100C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	12.94	2.088025	0.36855	.	.	ENSG00000178209	ENST00000322810	T	0.76839	-1.05	4.9	4.9	0.64082	Plectin/S10, N-terminal (1);	0.165072	0.26927	U	0.021791	T	0.69477	0.3115	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	P	0.51229	0.663	T	0.77413	-0.2597	10	0.87932	D	0	.	15.5576	0.76208	0.0:0.0:1.0:0.0	.	34	Q15149	PLEC_HUMAN	C	34	ENSP00000323856:R34C	ENSP00000323856:R34C	R	-	1	0	PLEC	145096763	1.000000	0.71417	0.956000	0.39512	0.376000	0.30014	6.369000	0.73109	2.263000	0.75096	0.563000	0.77884	CGC		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	0	NM_000445		8:145024775
RPL23AP7	118433	broad.mit.edu	37	2	114369641	114369641	+	RNA	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:114369641T>C	ENST00000416673.2	-	0	515					NR_000029.3				ribosomal protein L23a pseudogene 7																		GGTGCTCTTCTGAGGCTATCT	0.542																																						ENST00000416673.2		NA																	0					NA																																														0							g.chr2:114369641T>C	BC000596		2q14	2009-03-11				ENSG00000240356		"""L ribosomal proteins"""	17336	pseudogene	pseudogene						19123937	Standard	NR_000029		Approved	RPL23AL1, bA395L14.9	uc010yxy.1				2.37:g.114369641T>C		False	False		Somatic	0						NR_000029.3		WXS	Illumina HiSeq	Phase_I					0	515	-			NA						RNA	SNP	ENST00000416673.2	37																																																																																						0.542	RPL23AP7-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000397215.1	0			2:114369641
PCDHA12	56137	broad.mit.edu	37	5	140256671	140256671	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140256671C>T	ENST00000398631.2	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCCGGCG	0.692																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2		NA																	0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1612-1614)cgC>cgT									76.0	84.0	81.0					5																	140256671		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140256671C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1614C>T	5.37:g.140256671C>T		True	False		Somatic	0				PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.R538R	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1614	+			NA					O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1614C>T	CCDS47285.1																																																																																				0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	0	NM_018903		5:140256671
